Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a)

ENaCa; ENaCalpha; SCNEA; SCNN1; Sodium Channel,Nonvoltage-Gated 1,Alpha; Epithelial Na(+) channel subunit alpha; Nonvoltage-gated sodium channel 1 subunit alpha

SPN	T444
HGNC	10599
MGI	101782
PubMed	22776878
RGD	3639
UniProt	P37088
Wiki	SCNN1A

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. Amiloride Sensitive Sodium Channel Subunit Alpha is the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart.

Reference

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"Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel."
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"Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation."
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"Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
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"Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9)."
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"Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures."
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Erratum
Hypertension 41:1E-1E(2003)

"Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel."
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"Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel."
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"Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism."
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